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Ronald D Cohn

Showing results (91-100 of 100) with videos related to

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American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|February 13, 2018
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participantsMiriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
Pageof 10

Showing results (91-100 of 100) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 100 results.
American Journal of Human Genetics|February 8, 2020
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model OrganismsKym M Boycott, Philippe M Campeau, Heather E Howley, et al.
Journal of Child Neurology|November 17, 2010
Consensus statement on standard of care for congenital muscular dystrophiesChing H Wang, Carsten G Bonnemann, Anne Rutkowski, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 13, 2016
Recommendations for the integration of genomics into clinical practiceSarah Bowdin, Adel Gilbert, Emma Bedoukian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|February 13, 2018
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participantsMiriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.
The Lancet. Neurology|October 25, 2020
Monogenic variants in dystonia: an exome-wide sequencing studyMichael Zech, Robert Jech, Sylvia Boesch, et al.
Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.
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